Canonical Allele Identifier: CA2082833946
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398178_32398179delinsGT , CM000675.2:g.32398178_32398179delinsGT GRCh38
NC_000013.10:g.32972315_32972316delinsGT , CM000675.1:g.32972315_32972316delinsGT GRCh37
NC_000013.9:g.31870315_31870316delinsGT NCBI36
NG_012772.3:g.87699_87700delinsGT , LRG_293:g.87699_87700delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*188_*189delinsGT ENSP00000434898.2:n.*188_*189delinsGT
ENST00000528762.2:c.*1032_*1033delinsGT ENSP00000433168.2:n.*1032_*1033delinsGT
ENST00000530893.7:c.9296_9297delinsGT ENSP00000499438.2:p.Cys3099=
ENST00000665585.2:c.*1227_*1228delinsGT ENSP00000499570.2:n.*1227_*1228delinsGT
ENST00000700202.2:c.9614_9615delinsGT ENSP00000514856.2:p.Cys3205=
ENST00000700202.1:c.2081_2082delinsGT ENSP00000514856.1:p.Cys694=
ENST00000700203.1:n.1792_1793delinsGT
ENST00000380152.8:c.9665_9666delinsGT MANE Select ENSP00000369497.3:p.Cys3222=
ENST00000544455.6:c.9665_9666delinsGT ENSP00000439902.1:p.Cys3222=
ENST00000614259.2:c.9673_9674delinsGT ENSP00000506251.1:n.9673_9674delinsGT
ENST00000665585.1:c.2543_2544delinsGT
ENST00000680887.1:c.9665_9666delinsGT ENSP00000505508.1:p.Cys3222=
ENST00000380152.7:c.9665_9666delinsGT ENSP00000369497.3:p.Cys3222=
ENST00000470094.1:c.748_749delinsGT
ENST00000533776.1:n.253_254delinsGT
ENST00000544455.5:c.9665_9666delinsGT ENSP00000439902.1:p.Cys3222=
NM_000059.3:c.9665_9666delinsGT , LRG_293t1:c.9665_9666delinsGT NP_000050.2:p.Cys3222=
XM_011535203.1:c.9665_9666delinsGT XP_011533505.1:p.Cys3222=
XM_011535204.1:c.9569_9570delinsGT XP_011533506.1:p.Cys3190=
NM_000059.4:c.9665_9666delinsGT MANE Select NP_000050.3:p.Cys3222=